A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26961



Internal ID15486569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43149287..43149291hg38UCSC Ensembl
Outerchr19:43149204..43151323hg38UCSC Ensembl
Innerchr19:43653439..43653443hg19UCSC Ensembl
Outerchr19:43653356..43655475hg19UCSC Ensembl
Innerchr19:48345279..48345283hg18UCSC Ensembl
Outerchr19:48345196..48347315hg18UCSC Ensembl
Innerchr19:48345279..48345283hg17UCSC Ensembl
Outerchr19:48345196..48347315hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg382120
hg192120
hg182120
hg172120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA18504
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv26961
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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